Results 1 to 10 of about 264 (90)
Leukocyte Imbalances in Mucopolysaccharidoses Patients [PDF]
Biomedicines, 2023 Mucopolysaccharidoses (MPSs) are rare inherited lysosomal storage diseases (LSDs) caused by deficient activity in one of the enzymes responsible for glycosaminoglycans lysosomal degradation.
Nuno Lopes +15 more
doaj +2 more sources
Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort [PDF]
Orphanet Journal of Rare Diseases, 2021 Background Mucopolysaccharidosis type VII (Sly syndrome) is an ultra-rare neurometabolic disorder caused by inherited deficiency of the lysosomal enzyme β-glucuronidase.
Antonio Gónzalez-Meneses +6 more
doaj +2 more sources
Case report: NAFLD and maple syrup urine disease: Is there an interplay between branched-chain amino acids and fructose consumption? [PDF]
Frontiers in Pediatrics, 2022 BackgroundThe worldwide increase in pediatric overweight and obesity, in parallel with the global increase in the consumption of sucrose and fructose, is associated with non-alcoholic fatty liver disease (NAFLD).
Helena Moreira-Silva +7 more
doaj +2 more sources
Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal [PDF]
Frontiers in Genetics, 2023 Background: Dyslipidaemia represents a group of disorders of lipid metabolism, characterized by either an increase or decrease in lipid particles, usually associated with triglycerides, LDL cholesterol (LDL-C) and/or HDL cholesterol (HDL-C).
Ana Catarina Alves +13 more
doaj +2 more sources
Peculiaridade dos Pacientes com Arritmias Hereditárias na Pandemia pela COVID-19 [PDF]
Arquivos Brasileiros de Cardiologia, 2021 Resumo Desde dezembro de 2019, observamos o rápido avanço da síndrome respiratória aguda grave causada pelo coronavírus 2019 (SARS-CoV-2). O impacto da evolução clínica de uma infecção respiratória é pouco conhecido em pacientes portadores de arritmias ...
Luciana Sacilotto +12 more
doaj +3 more sources
Natural history of three late-diagnosed classic Galactosemia patients [PDF]
Molecular Genetics and Metabolism ReportsThe authors report the natural history of three patients with late-diagnosed Classic Galactosemia (CG) (at 16, 19 and 28 years). This was due to a combination of factors: absence of neonatal screening, absence of some typical acute neonatal symptoms, and
Dulce Quelhas +11 more
doaj +2 more sources
Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients [PDF]
Frontiers in Immunology, 2019 The lysosome has a key role in the presentation of lipid antigens by CD1 molecules. While defects in lipid antigen presentation and in invariant Natural Killer T (iNKT) cell response were detected in several mouse models of lysosomal storage diseases ...
Catia S. Pereira +25 more
doaj +2 more sources
SLC35A2-CDG: Novel variant and review [PDF]
Molecular Genetics and Metabolism Reports, 2021 SLC35A2 encodes the X-linked transporter that carries uridine diphosphate (UDP)-galactose from the cytosol to the lumen of the Golgi apparatus and the endoplasmic reticulum.
Dulce Quelhas +9 more
doaj +2 more sources
SLC37A4‐CDG: Second patient [PDF]
JIMD Reports, 2021 Recently, a disorder caused by the heterozygous de novo c.1267C>T (p.R423*) substitution in SLC37A4 has been described. This causes mislocalization of the glucose‐6‐phosphate transporter to the Golgi leading to a congenital disorder of glycosylation type
Matthew P. Wilson +14 more
doaj +2 more sources
Orphanet Journal of Rare Diseases, 2021 Background In phenylketonuria (PKU), modified casein glycomacropeptide supplements (CGMP-AA) are used as an alternative to the traditional phenylalanine (Phe)-free L-amino acid supplements (L-AA).
Maria João Pena +13 more
doaj +1 more source